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Argininosuccinate Lyase Deficiency – Argininosuccinic Aciduria and Beyond

The urea cycle consists of six consecutive enzymatic reactions that convert waste nitrogen into urea. Deficiencies of any of these enzymes of the cycle result in urea cycle disorders (UCD), a group of inborn errors of hepatic metabolism that often result in life threatening hyperammonemia. Argininos...

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Détails bibliographiques
Auteurs principaux: Erez, Ayelet, Sreenath Nagamani, Sandesh C., Lee, Brendan
Format: Artigo
Langue:Inglês
Publié: 2011
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3073162/
https://ncbi.nlm.nih.gov/pubmed/21312326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30289
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